MCID: ATS460
MIFTS: 14

Autosomal Recessive Congenital Cerebellar Ataxia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Congenital Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Recessive Congenital Cerebellar Ataxia:

Name: Autosomal Recessive Congenital Cerebellar Ataxia 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA98095

Summaries for Autosomal Recessive Congenital Cerebellar Ataxia

MalaCards based summary : Autosomal Recessive Congenital Cerebellar Ataxia is related to spinocerebellar ataxia, autosomal recessive 13 and spinocerebellar ataxia, autosomal recessive 18. An important gene associated with Autosomal Recessive Congenital Cerebellar Ataxia is AP3B2 (Adaptor Related Protein Complex 3 Subunit Beta 2).

Related Diseases for Autosomal Recessive Congenital Cerebellar Ataxia

Graphical network of the top 20 diseases related to Autosomal Recessive Congenital Cerebellar Ataxia:



Diseases related to Autosomal Recessive Congenital Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Recessive Congenital Cerebellar Ataxia

Drugs & Therapeutics for Autosomal Recessive Congenital Cerebellar Ataxia

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Congenital Cerebellar Ataxia

Genetic Tests for Autosomal Recessive Congenital Cerebellar Ataxia

Anatomical Context for Autosomal Recessive Congenital Cerebellar Ataxia

Publications for Autosomal Recessive Congenital Cerebellar Ataxia

Articles related to Autosomal Recessive Congenital Cerebellar Ataxia:

# Title Authors PMID Year
1
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. 61
31168944 2019
2
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. 61
22901947 2012
3
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. 61
20531441 2010
4
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family. 61
11506409 2001

Variations for Autosomal Recessive Congenital Cerebellar Ataxia

Expression for Autosomal Recessive Congenital Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Recessive Congenital Cerebellar Ataxia.

Pathways for Autosomal Recessive Congenital Cerebellar Ataxia

GO Terms for Autosomal Recessive Congenital Cerebellar Ataxia

Cellular components related to Autosomal Recessive Congenital Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 P-body GO:0000932 8.96 MEX3B BTBD1
2 glutamatergic synapse GO:0098978 8.8 SH3GL3 HOMER2 GRM1

Biological processes related to Autosomal Recessive Congenital Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled glutamate receptor signaling pathway GO:0007216 8.62 HOMER2 GRM1

Sources for Autosomal Recessive Congenital Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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